Canonical Allele Identifier: CA404246359

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767824T>A (hg19) ; chr19:g.12657010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657010T>A , CM000681.2:g.12657010T>A	GRCh38
NC_000019.9:g.12767824T>A , CM000681.1:g.12767824T>A	GRCh37
NC_000019.8:g.12628824T>A	NCBI36
NG_008318.1:g.14768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1466A>T MANE Select	ENSP00000395473.2:p.His489Leu
ENST00000221363.8:c.1463A>T	ENSP00000221363.4:p.His488Leu
ENST00000433513.5:n.72A>T
ENST00000456935.6:c.1466A>T	ENSP00000395473.2:p.His489Leu
ENST00000466794.5:n.1365A>T
ENST00000495617.1:n.642A>T
ENST00000593686.1:c.76A>T
ENST00000595880.5:n.63A>T
NM_000528.3:c.1466A>T	NP_000519.2:p.His489Leu
NM_001173498.1:c.1463A>T	NP_001166969.1:p.His488Leu
XM_005259913.1:c.1469A>T	XP_005259970.1:p.His490Leu
XM_011528017.1:c.365A>T	XP_011526319.1:p.His122Leu
XM_005259913.2:c.1469A>T	XP_005259970.1:p.His490Leu
XM_024451518.1:c.365A>T	XP_024307286.1:p.His122Leu
NM_000528.4:c.1466A>T MANE Select	NP_000519.2:p.His489Leu
NM_001173498.2:c.1463A>T	NP_001166969.1:p.His488Leu